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自然存在的拼接变体剖析了BHC80的功能域,并强调了RNA分析的必要性

Duha Hejla1, Stephanie Huynh2,3, Simran Samra4,5

  • 1Department of Pediatrics, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

American journal of medical genetics. Part A
|January 24, 2024
PubMed
概括

PHF21A中的致病变体会导致神经发育障碍 (NDD). 在BHC80中破坏leucine拉链域的新型拼接变体为PHF21A相关的NDD机制提供了新的见解.

关键词:
ID (智力障碍) (智力障碍) 的身份证PHF21A (植物本地主体指蛋白21A)通过RNA拼接进行RNA拼接.过度生长 过度生长转录组 (transcriptome) 是一个转录组.

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